Varaico: Literature-Extracted Genetic Variants

Gene:POU4F3
Variant:p.N240S

POU4F3

133 papers

RefSeq Summary

This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protei...

Pfam Domains

Pouaa 182–256UCSCPou domain - N-terminal to homeobox domain
Homeodomainaa 275–331UCSCHomeodomain

Gene Aliases

HGNC Name

POU class 4 homeobox 3

HGNC Previous Symbols

DFNA15; DFNA52; DFNA42

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002700.3
p.N240S
c.719A>G
Surrounding Variants
5 papers
NM_002700.3
p.N240Y
c.718A>T
1 paper
NM_002700.3
p.N239I
c.716A>T
1 paper
NM_002700.3
p.L244V
c.730C>G
1 paper
NM_002700.3
p.L236F
c.706C>T
1 paper
NM_002700.3
p.L236fs
c.706_707fs
1 paper
NM_002700.3
p.T235delFs
c.705delT
1 paper
NM_002700.3
p.T235fs
c.703_704fs
1 paper
NM_002700.3
p.T235delFs
c.704_705delCT
1 paper
NM_002700.3
p.P246T
c.736C>A
1 paper
NM_002700.3
p.T235del1
c.703_704delACT
1 paper
NM_002700.3
p.E232D
c.696G>C
1 paper
NM_002700.3
p.E232D
c.696G>T
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